ClinVar Miner

Variants with conflicting interpretations studied for Nonsyndromic hearing loss and deafness

Coded as:
Minimum review status of the submission for Nonsyndromic hearing loss and deafness: Y axis collection method of the submission for Nonsyndromic hearing loss and deafness:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
9 10 5 14 14 0 12 32

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Nonsyndromic hearing loss and deafness pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 3 2 3 1
likely pathogenic 3 0 4 1 0
uncertain significance 4 2 0 1 0
likely benign 0 0 8 0 2
benign 0 0 5 6 0

Condition to condition summary #

Total conditions: 17
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 15 0 8 7 0 3 17
not provided 0 10 0 5 6 0 6 15
Nonsyndromic Hearing Loss, Dominant 0 2 0 2 9 0 2 13
Deafness, autosomal recessive 1A 0 4 5 3 0 0 4 8
Nonsyndromic Hearing Loss, Recessive 0 2 0 2 6 0 0 8
Hearing impairment 0 4 0 2 0 0 1 3
Deafness, autosomal dominant 3a 0 5 0 0 0 0 2 2
Hearing loss 0 4 0 1 0 0 1 2
Hystrix-like ichthyosis with deafness 0 1 0 0 0 0 2 2
Keratitis ichthyosis and deafness syndrome 0 1 0 0 0 0 2 2
Mutilating keratoderma 0 1 0 0 0 0 2 2
Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1 0 1 0 0 0 0 1 1
Deafness, autosomal dominant 22 0 0 0 1 0 0 0 1
Deafness, autosomal dominant 9 0 1 0 0 0 0 1 1
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 0 2 0 1 0 0 0 1
Deafness, autosomal recessive 9 0 0 0 0 0 0 1 1
Retinitis pigmentosa-deafness syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606
NM_004086.3(COCH):c.629+5C>T rs202109231
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) rs35107075
NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys) rs139165033
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.3492C>T (p.Thr1164=) rs144012985
NM_005422.2(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005422.2(TECTA):c.487-7C>G rs368627411
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) rs144682235
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.